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Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.

pengarang

Jamal Ghoumid

Marie-Pierre Alex-Cordier

Pierre Guerreschi

1978 -

Matthieu Jung

Serge Vicaire

Clémence Vanlerberghe

Florence Petit

diterbitkan dalam: Genetics in Medicine

tanggal publikasi: 2017-03-16

bahasa: Inggris

subyek utama: Cadherin 1

Cites articles 40

Date

Judul

Pengarang

2016-09-14

Cadherin tales: Regulation of cadherin function by endocytic membrane trafficking

Andrew P. Kowalczyk
2016-08-26

Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features.

Katsuhiko Shirahige
2016-01-13

Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer
2015-04-01

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond

Hugo Pinheiro, Carla Oliveira, Joana Carvalho, Kasmintan A Schrader, Teresa Almeida Santos, Parry Guilford, Paul D P Pharoah, Carlos Caldas, Steven Garcia, Noralane Lindor, Aline Talhouk
2015-05-15

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers

Fatima Carneiro, Hugo Pinheiro, Ingrid P Vogelaar, Parry Guilford, Nicoline Hoogerbrugge, Patrick R Benusiglio, Alex Boussioutas, Joana Figueiredo, Krish Ragunath, Raquel Seruca, Amy Taylor, Han van Krieken, Richard van Hillegersberg, Marjolijn J L Ligtenberg, Rosella P M G Hermens, Marc Tischkowitz, Bostjan Humar
2015-06-29

Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate

Mayana Zatz, Gerson S Kobayashi, Joana Figueiredo, Raquel Seruca, Maria Rita Passos-Bueno, Michel S. Naslavsky, Nivaldo Alonso, Lucas Alvizi, Simone Gomes Ferreira, Carolina Malcher
2015-03-03

VaRank: a simple and powerful tool for ranking genetic variants

Cécile Pizot, Amélie Piton, Jean Muller
2015-05-29

Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation

Patrick R Benusiglio, Camille Tlemsani, Dominique Stoppa-Lyonnet
2014-04-09

Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature
2013-12-24

Germline CDH1 mutations in bilateral lobular carcinoma in situ

Richard C Trembath, Sarah E. Pinder, Ian Tomlinson, Elinor J. Sawyer
2012-04-18

E-cadherin regulates the behavior and fate of epithelial stem cells and their progeny in the mouse incisor

Roch-Philippe Charles, Thimios A Mitsiadis
2012-11-16

Cleft lip, cleft palate, hereditary diffuse gastric cancer and germline mutations in CDH1

Patrick R Benusiglio
2012-11-29

Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts

Raquel Seruca, Carine E Carels, Ingrid P Vogelaar, Joana Figueiredo, Joana Simões Correia, Soraia Melo, Nicoline Hoogerbrugge, Marjolijn J L Ligtenberg
2012-05-01

Thinking outside the cell: how cadherins drive adhesion
2012-08-01

The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC.

Ola Söderberg, Raquel Seruca
2011-10-26

Association of Rho-associated protein kinase 1 with E-cadherin complexes is mediated by p120-catenin
2011-10-23

CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling

Joana Simões Correia, Han van Krieken, Joana Figueiredo, Rolf H Sijmons, Nicoline Hoogerbrugge, Evelien Dekker, Richard van Hillegersberg
2011-05

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark Joseph Daly, David Altshuler, Stacey Gabriel, Manuel Antonio Rivas
2011-02-09

The extracellular architecture of adherens junctions revealed by crystal structures of type I cadherins

Lawrence Shapiro, Barry Honig, Joachim Frank, Cheri M Hampton, Xiangshu Jin
2010-02-01

Imperforate anus is a rare associated finding in blepharocheilodontic syndrome
2010-09-16

Targeted p120-catenin ablation disrupts dental enamel development

Elaine Fuchs, Coralee E Tye, Mirna Perez-Moreno, John D Bartlett
2009-07-15

Fast and accurate short read alignment with Burrows-Wheeler transform

Richard M. Durbin, Heng Li
2009-08-15

The Sequence Alignment/Map format and SAMtools

Richard M. Durbin, Heng Li, Gonçalo Abecasis, Jue Ruan
2008-09-04

Endoplasmic reticulum quality control: a new mechanism of E-cadherin regulation and its implication in cancer

Carla Oliveira, Raquel Seruca, Joana Simões Correia, Joana Figueiredo
2007-11-01

Preliminary molecular studies on blepharocheilodontic syndrome

Vera L Gil-da-Silva-Lopes
2006-03-01

Blepharo-cheilo-dontic (BCD) syndrome: case report
2005-04-14

Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

Carla Graziadio, Sérgio Castedo, Carla Oliveira, Raquel Seruca, Fatima Carneiro
2005-03-07

ROCK-I regulates closure of the eyelids and ventral body wall by inducing assembly of actomyosin bundles

Shuh Narumiya
2004-08-03

p120 catenin is required for morphogenetic movements involved in the formation of the eyes and the craniofacial skeleton in Xenopus.
2004-10-01

Emerging roles for p120-catenin in cell adhesion and cancer
2004-01-02

Conditional targeting of E-cadherin in skin: insights into hyperproliferative and degenerative responses

Elaine Fuchs
2003-12-01

Cadherin-mediated cell-cell adhesion: sticking together as a family

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